Epileptic encephalopathies (EEs) are defined as conditions where the epileptic activity itself contributes to severe and progressive cognitive and behavioral impairments by the International League Against Epilepsy (ILAE).[1] With advances in biotechnology and bioinformatics tools, causative monogenic etiologies have been identified in 20-40% of pediatric patients with EEs through exome-wide genetic analyses.[2] Genetic pediatric EEs are grouped as diseases characterized by early-onset epilepsy with high levels of phenotypic heterogeneity and genotypic diversity.
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